Sacconi S - Search Results

1

Atrio-ventricular block requiring pacemaker in patients with late onset Pompe disease.

Sacconi S, Wahbi K, Theodore G, Garcia J, Salviati L, Bouhour F, Vial C, Duboc D, Laforêt P, Desnuelle C. Sacconi S, et al. Neuromuscul Disord. 2014 Jul;24(7):648-50. doi: 10.1016/j.nmd.2014.04.005. Epub 2014 Apr 24. Neuromuscul Disord. 2014. PMID: 24844452

2

Acute disseminated encephalomyelitis associated with hepatitis C virus infection.

Sacconi S, Salviati L, Merelli E. Sacconi S, et al. Arch Neurol. 2001 Oct;58(10):1679-81. doi: 10.1001/archneur.58.10.1679. Arch Neurol. 2001. PMID: 11594929

3

Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the G12315A mutation in mitochondrial DNA.

Karadimas CL, Salviati L, Sacconi S, Chronopoulou P, Shanske S, Bonilla E, De Vivo DC, DiMauro S. Karadimas CL, et al. Among authors: sacconi s. Neuromuscul Disord. 2002 Nov;12(9):865-8. doi: 10.1016/s0960-8966(02)00072-x. Neuromuscul Disord. 2002. PMID: 12398839 Clinical Trial.

4

Normal growth and regenerating ability of myoblasts from unaffected muscles of facioscapulohumeral muscular dystrophy patients.

Vilquin JT, Marolleau JP, Sacconi S, Garcin I, Lacassagne MN, Robert I, Ternaux B, Bouazza B, Larghero J, Desnuelle C. Vilquin JT, et al. Among authors: sacconi s. Gene Ther. 2005 Nov;12(22):1651-62. doi: 10.1038/sj.gt.3302565. Gene Ther. 2005. PMID: 15973444

5

hCOX18 and hCOX19: two human genes involved in cytochrome c oxidase assembly.

Sacconi S, Trevisson E, Pistollato F, Baldoin MC, Rezzonico R, Bourget I, Desnuelle C, Tenconi R, Basso G, DiMauro S, Salviati L. Sacconi S, et al. Biochem Biophys Res Commun. 2005 Nov 25;337(3):832-9. doi: 10.1016/j.bbrc.2005.09.127. Epub 2005 Sep 29. Biochem Biophys Res Commun. 2005. PMID: 16212937

6

[The possible place of autologus cell therapy in facioscapulohumeral muscular dystrophy].

Desnuelle C, Sacconi S, Marolleau JP, Larghero J, Vilquin JT. Desnuelle C, et al. Among authors: sacconi s. Bull Acad Natl Med. 2005 Apr;189(4):697-713; discussion 713-4. Bull Acad Natl Med. 2005. PMID: 16245686 French.

7

Diagnostic challenges in facioscapulohumeral muscular dystrophy.

Sacconi S, Salviati L, Bourget I, Figarella D, Péréon Y, Lemmers R, van der Maarel S, Desnuelle C. Sacconi S, et al. Neurology. 2006 Oct 24;67(8):1464-6. doi: 10.1212/01.wnl.0000240071.62540.6f. Neurology. 2006. PMID: 17060574

8

Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene.

Trevisson E, Salviati L, Baldoin MC, Toldo I, Casarin A, Sacconi S, Cesaro L, Basso G, Burlina AB. Trevisson E, et al. Among authors: sacconi s. Hum Mutat. 2007 Jul;28(7):694-702. doi: 10.1002/humu.20498. Hum Mutat. 2007. PMID: 17326097

9

A functionally dominant mitochondrial DNA mutation.

Sacconi S, Salviati L, Nishigaki Y, Walker WF, Hernandez-Rosa E, Trevisson E, Delplace S, Desnuelle C, Shanske S, Hirano M, Schon EA, Bonilla E, De Vivo DC, DiMauro S, Davidson MM. Sacconi S, et al. Hum Mol Genet. 2008 Jun 15;17(12):1814-20. doi: 10.1093/hmg/ddn073. Epub 2008 Mar 12. Hum Mol Genet. 2008. PMID: 18337306 Free PMC article.

10

Dehydroepiandrosterone for myotonic dystrophy type 1.

Pénisson-Besnier I, Devillers M, Porcher R, Orlikowski D, Doppler V, Desnuelle C, Ferrer X, Bes MC, Bouhour F, Tranchant C, Lagrange E, Vershueren A, Uzenot D, Cintas P, Solé G, Hogrel JY, Laforêt P, Vial C, Vila AL, Sacconi S, Pouget J, Eymard B, Chevret S, Annane D. Pénisson-Besnier I, et al. Among authors: sacconi s. Neurology. 2008 Aug 5;71(6):407-12. doi: 10.1212/01.wnl.0000324257.35759.40. Neurology. 2008. PMID: 18678823 Clinical Trial.

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